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Genetic Epilepsy v1.92 CCT3 Zornitza Stark Phenotypes for gene: CCT3 were changed from neurodevelopmental disorder MONDO:0700092, CCT3-related to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034
Genetic Epilepsy v1.91 CCT3 Zornitza Stark reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.80 CCT3 Ain Roesley Marked gene: CCT3 as ready
Genetic Epilepsy v1.80 CCT3 Ain Roesley Gene: cct3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.80 CCT3 Ain Roesley Classified gene: CCT3 as Green List (high evidence)
Genetic Epilepsy v1.80 CCT3 Ain Roesley Gene: cct3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.79 CCT3 Ain Roesley gene: CCT3 was added
gene: CCT3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to neurodevelopmental disorder MONDO:0700092, CCT3-related
Penetrance for gene: CCT3 were set to Complete
Review for gene: CCT3 was set to GREEN
gene: CCT3 was marked as current diagnostic
Added comment: 4x de novo - 3x PTCs and 1x missense

overlapping phenotypes:
4/4 ID/DD
3/4 visual impairment
2/4 seizures
4/4 Hypomyelination of white matter
Sources: Literature